GTR Home > Conditions/Phenotypes > Noonan syndrome 7

Summary

Excerpted from the GeneReview: Noonan Syndrome
Noonan syndrome (NS) is characterized by characteristic facies, short stature, congenital heart defect, and developmental delay of variable degree. Other findings can include broad or webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus excavatum, cryptorchidism, varied coagulation defects, lymphatic dysplasias, and ocular abnormalities. Although birth length is usually normal, final adult height approaches the lower limit of normal. Congenital heart disease occurs in 50%-80% of individuals. Pulmonary valve stenosis, often with dysplasia, is the most common heart defect and is found in 20%-50% of individuals. Hypertrophic cardiomyopathy, found in 20%-30% of individuals, may be present at birth or develop in infancy or childhood. Other structural defects include atrial and ventricular septal defects, branch pulmonary artery stenosis, and tetralogy of Fallot. Up to one fourth of affected individuals have mild intellectual disability, and language impairments in general are more common in NS than in the general population.

Genes See tests for all associated and related genes

  • Also known as: B-RAF1, B-raf, BRAF1, NS7, RAFB1, BRAF
    Summary: B-Raf proto-oncogene, serine/threonine kinase

Clinical features

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Practice guidelines

  • AAP, 2010
    Noonan syndrome: clinical features, diagnosis, and management guidelines.

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